long QT syndrome 5
MONDO:0013372Mondo
Findings
No curated finding names long QT syndrome 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013372), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Early young adult onset
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Sinus bradycardiaHPOHP:0001688
- 2 of 2 reported patients
- Prolonged QTc intervalHPOHP:0005184
- 6 of 7 reported patients
- Ventricular fibrillationHPOHP:0001663
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KCNE1HGNC:6240
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · ClinGen · Autosomal dominant · 2020
- Limited · G2P · Autosomal dominant · 2022
Where it sits
- A kind of
- Narrower terms (1)
Other names
4 names
Resolves to: long QT syndrome 5
- Also called
- KCNE1 long QT syndromelong QT syndrome caused by mutation in KCNE1long QT syndrome type 5LQT5